Varaico: Literature-Extracted Genetic Variants

EZH2

1,616 papers

RefSeq Summary

This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes ove...

Pfam Domains

EZH2_WD-Bindingaa 39–68UCSCWD repeat binding protein EZH2

PRC2_HTH_1aa 158–249UCSCPolycomb repressive complex 2 tri-helical domain

Ezh2_MCSSaa 257–309UCSCEzh2, MCSS domain

preSET_CXCaa 559–590UCSCCXC domain

SETaa 623–727UCSCSET domain

Gene Aliases

HGNC Name

enhancer of zeste 2 polycomb repressive complex 2 subunit

HGNC Alias Symbols

ENX-1; KMT6; KMT6A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004456.5

p.Y701C

c.2102A>G

Surrounding Variants

1 paper

NM_004456.5

p.A702P

c.2104G>C

1 paper

NM_004456.5

p.A702T

c.2104G>A

1 paper

NM_004456.5

p.C700Y

c.2099G>A

1 paper

NM_004456.5

p.A702V

c.2105C>T

1 paper

NM_004456.5

p.C700_Y701ins7

c.2098_2102ins21

1 paper

NM_004456.5

p.N699K

c.2097C>G

1 paper

NM_004456.5

p.N699Fs

c.2097delinsGGCFs

1 paper

NM_004456.5

p.N699K

c.2097C>A

1 paper

NM_004456.5

p.N699H

c.2095A>C

3 papers

NM_004456.5

p.V704F

c.2110G>T

1 paper

NM_004456.5

p.V704L

c.2110G>C

1 paper

NM_004456.5

p.V704Splc

c.2110+1G>A